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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1993-11-5
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pubmed:abstractText |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene. In patients with a full mutation, abnormal methylation results in suppression of FMR-1 transcription. FMR-1 is expressed in many tissues but its function is unknown. We have raised monoclonal antibodies specific for the FMR-1 protein. They detect 4-5 protein bands which appear identical in cells of normal males and of males carrying a premutation, but are absent in affected males with a full mutation. Immunohistochemistry shows a cytoplasmic localization of FMR-1. The highest levels were observed in neurons, while glial cells contain very low levels. In epithelial tissues, levels of FMR-1 were higher in dividing layers. In adult testis, FMR-1 was detected only in spermatogonia. FMR-1 was not detected in dermis and cardiac muscle except under pathological conditions.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
4
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pubmed:geneSymbol |
FMR-1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
335-40
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8401578-Amino Acid Sequence,
pubmed-meshheading:8401578-Animals,
pubmed-meshheading:8401578-Antibodies, Monoclonal,
pubmed-meshheading:8401578-Base Sequence,
pubmed-meshheading:8401578-Cell Line,
pubmed-meshheading:8401578-Cloning, Molecular,
pubmed-meshheading:8401578-DNA,
pubmed-meshheading:8401578-Exons,
pubmed-meshheading:8401578-Fragile X Mental Retardation Protein,
pubmed-meshheading:8401578-Fragile X Syndrome,
pubmed-meshheading:8401578-Heterozygote Detection,
pubmed-meshheading:8401578-Humans,
pubmed-meshheading:8401578-Male,
pubmed-meshheading:8401578-Methylation,
pubmed-meshheading:8401578-Molecular Sequence Data,
pubmed-meshheading:8401578-Mutation,
pubmed-meshheading:8401578-Nerve Tissue Proteins,
pubmed-meshheading:8401578-Neurons,
pubmed-meshheading:8401578-Oligodeoxyribonucleotides,
pubmed-meshheading:8401578-Organ Specificity,
pubmed-meshheading:8401578-RNA-Binding Proteins,
pubmed-meshheading:8401578-Recombinant Fusion Proteins,
pubmed-meshheading:8401578-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:8401578-Transfection
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pubmed:year |
1993
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pubmed:articleTitle |
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
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pubmed:affiliation |
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de l'INSERM, Faculté de Médecine, Strasbourg, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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